Waardenburg-Shah syndrome (WS4; MIM277580) is one of the four types of Waardenburg Syndrome that is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss along with dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects (Pingault et al.

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